M C Rosatelli

Summary

Affiliation: University of Cagliari
Country: Italy

Publications

  1. pmc Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I
    M C Rosatelli
    Instituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Sardinia, Italy
    J Med Genet 34:122-5. 1997
  2. ncbi request reprint A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
    M C Rosatelli
    Istituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
    Hum Genet 103:428-34. 1998
  3. ncbi request reprint Molecular diagnosis and carrier screening for beta thalassemia
    A Cao
    Istituto di Clinica e Biologia dell Età Evolutiva Universitá degli Studi di Cagliari, Italy
    JAMA 278:1273-7. 1997
  4. ncbi request reprint Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus
    V Faa
    Istituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
    Hum Mol Genet 3:1685-6. 1994

Collaborators

Detail Information

Publications4

  1. pmc Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I
    M C Rosatelli
    Instituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Sardinia, Italy
    J Med Genet 34:122-5. 1997
    ..All but two heterozygotes for the AF170 mutation showed normal serum bilirubin levels. These two subjects were also heterozygous for the sequence variation A(TA)7TAA in the promoter region of the UGT1A gene...
  2. ncbi request reprint A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients
    M C Rosatelli
    Istituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
    Hum Genet 103:428-34. 1998
    ..Given the carrier frequency of R139X in the Sardinian population, AIRE may be implicated in the pathogenesis of other autoimmune diseases in the Sardinian population, particularly those affecting the endocrine system...
  3. ncbi request reprint Molecular diagnosis and carrier screening for beta thalassemia
    A Cao
    Istituto di Clinica e Biologia dell Età Evolutiva Universitá degli Studi di Cagliari, Italy
    JAMA 278:1273-7. 1997
    ..Molecular diagnosis of homozygotes and identification of carriers of beta thalassemia may lead to improved clinical management of patients with the disorder and prevention of the birth of affected homozygotes...
  4. ncbi request reprint Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus
    V Faa
    Istituto di Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
    Hum Mol Genet 3:1685-6. 1994